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Refsum Disease Diseases and Disorders, Disorders of Fatty Acid Metabolism, Disorders of Peroxisome Biogenesis and Function Last Updated: July 13, 2026 Introduction to Refsum Disease Refsum disease (heredopathia atactica polyneuritiformis) is an autosomal recessive disorder named for Sigvald Refsum who, in 1945, initially characterized the cardinal clinical features of this disease that...

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C.BauerM.BockC.CalandraT.Gat-ViksI.et al (2024)